Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250125G>C , CM000679.2:g.44250125G>C | GRCh38 |
| NC_000017.10:g.42327493G>C , CM000679.1:g.42327493G>C | GRCh37 |
| NC_000017.9:g.39683019G>C | NCBI36 |
| NG_007498.1:g.23010C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.*333C>G MANE Select | NP_000333.1:n.*333C>G |
| ENST00000262418.12:c.*333C>G MANE Select | ENSP00000262418.6:n.*333C>G |
| NM_000342.3:c.*333C>G | NP_000333.1:n.*333C>G |
| ENST00000262418.10:c.*333C>G | ENSP00000262418.6:n.*333C>G |
| ENST00000399246.3:c.*333C>G | ENSP00000382190.3:n.*333C>G |
| XM_005257593.3:c.*333C>G | XP_005257650.1:n.*333C>G |
| XM_005257593.5:c.*333C>G | XP_005257650.1:n.*333C>G |
| XM_011525129.1:c.*333C>G | XP_011523431.1:n.*333C>G |
| XM_011525129.2:c.*333C>G | XP_011523431.1:n.*333C>G |